Dr. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Elite provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Dr. Nara Lygia De Macena Sobreira is an assistant professor at the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her area of expertise is rare Mendelian phenotypes, analysis of next-generation sequencing, and functional testing of candidate causative variants. She earned her M.D. at the University of Pernambuco in Brazil. She finished her Ph.D. in Human Genetics at Johns Hopkins followed by a one-year postdoc also at Johns Hopkins School of Medicine. During her Ph.D., she worked with Dr. David Valle using next-generation sequencing to elucidate the molecular basis of rare Mendelian phenotypes and in 2010 she discovered PTPN11 as the gene responsible for metachondromatosis by using whole-genome sequencing. She completed residencies in clinical genetics at both Universidade Federal de Sao Paulo and Johns Hopkins. Her main clinical and research focus is on identifying the genetic bases of rare phenotypes, mainly, phenotypes associated with cartilage tumors and vascular anomalies (including Ollier disease and Maffucci syndrome), and on understanding the physiopathology of these phenotypes to identify pharmacological strategies to treat them. She has worked extensively on developing strategies to better analyze the variants identified by next-generation sequencing and on novel strategies for data sharing. She participated on the development of PhenoDB, a phenotypic and genomic database, and created PhenoDB Variant Analysis Tool used worldwide. She is also one of the creators of GeneMatcher, VariantMatcher, and one of the co-founders of the Matchmaker Exchange, all intended to share next-generation sequencing data. She has also worked extensively on functional studies that evaluate the possible pathogenic effects of the candidate causative variants. Recent News Articles and Media Coverage Living the Hopkins Mission Honorees, Johns Hopkins Medicine Successes in Characterizing Genes through GeneMatcher with Nara L. M. Sobreira, MD, PhD, Ambry Genetics (April 30, 2018) Enfermedades raras: el desafio es encontrar otros pacientes que tienen el mismo mal, Lun (26 de septiembre de 2019) 2021 Science Writers' Boot Camp, Johns Hopkins Medicine (June 7, 2021) Making the Perfect Match, Johns Hopkins Medicine (February 1, 2020). Dr. De Macena Sobreira is rated as an Elite provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Greenberg Dysplasia, Blepharophimosis, and Early Infantile Epileptic Encephalopathy.

Debora Bertola practices in Sao Paulo, Brazil. Ms. Bertola is rated as an Elite expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are RASopathies, Noonan Syndrome, Acrofacial Dysostosis Catania Type, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Osteotomy.

Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is currently accepting new patients.

Wei Wang is a Psychiatrist in Englewood, New Jersey. Dr. Wang is rated as a Distinguished provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Gallbladder Disease, Ocular Hypertension (OHT), Dementia, Endoscopy, and Bone Marrow Aspiration. Dr. Wang is currently accepting new patients.

Jeffrey Campbell is a General Surgeon and a Pediatrics provider in Broomall, Pennsylvania. Dr. Campbell is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Achondroplasia, Increased Head Circumference, Spondyloepiphyseal Dysplasia, Bone Graft, and Adenoidectomy. Dr. Campbell is currently accepting new patients.

Marie Mcdonald is a Pediatrics provider in Durham, North Carolina. Dr. Mcdonald is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Fabry Disease, Hypotonia, Spondyloepimetaphyseal Dysplasia Strudwick Type, and Microcephaly. Dr. Mcdonald is currently accepting new patients.

Dr. David Valle is a professor of pediatrics and ophthalmology at the Johns Hopkins School of Medicine and former director of the Johns Hopkins Department of Genetic Medicine. He also serves as a geneticist for the Johns Hopkins Children’s Center. Dr. Valle holds a bachelor’s degree and medical degree from Duke University. He completed a pediatric residency at Johns Hopkins University before joining the Johns Hopkins faculty. He is interested in the genetic contributions to health and disease. He is the founding director of the Johns Hopkins Center for Inherited Disease Research. Over the years, his laboratory has discovered the genetic causation for more than 20 diseases, including those responsible for inborn errors of metabolism, inherited retinal degeneration, disorders of cellular organelle biogenesis and genetic variations that contribute risk for common disorders such as schizophrenia. Dr. Valle also serves as director of the Predoctoral Training Program in Human Genetics, as well as co-director of the Genes to Society program. He was a 2014 recipient of the annual Victor A. McKusick Leadership Award from the American Society of Human Genetics, which recognizes individuals whose professional achievements have fostered and enriched the development of human genetics as well as its assimilation into the broader context of science, medicine and health. Dr. Valle is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Micrognathia, Urea Cycle Disorders (UCD), and Spondyloepiphyseal Dysplasia Congenita.

Robert Heinle is a Pediatrics specialist and a Pediatric Pulmonologist in Wilmington, Delaware. Dr. Heinle is rated as an Advanced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Subglottic Stenosis, Duchenne Muscular Dystrophy, Hypochondroplasia, Osteotomy, and Adenoidectomy. Dr. Heinle is currently accepting new patients.

Alessandro Iannaccone is an Ophthalmologist in Chapel Hill, North Carolina. Dr. Iannaccone is rated as an Experienced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Retinitis Pigmentosa, Retinopathy Pigmentary Mental Retardation, X-Linked Retinitis Pigmentosa (XLRP), and Usher Syndrome Type 2A. Dr. Iannaccone is currently accepting new patients.

Vandana Raman is a Hematologist Oncology specialist and an Oncologist in Lafayette, Indiana. Dr. Raman is rated as an Experienced provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Familial Colorectal Cancer, Paget Disease of the Breast, Lynch Syndrome, and Colorectal Cancer. Dr. Raman is currently accepting new patients.

Dieter Reinhardt practices in Montreal, Canada. Mr. Reinhardt is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Marfan Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, GEMSS Syndrome, and Weill-Marchesani Syndrome.

Philippe Campeau practices in Montreal, Canada. Mr. Campeau is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are DOOR Syndrome, Craniofacial-Deafness-Hand Syndrome, Micrognathia, and Deafness Craniofacial Syndrome.

Neha Dinesh practices in Montreal, Canada. Ms. Dinesh is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Spondyloepimetaphyseal Dysplasia Strudwick Type, Chondrodystrophy, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

Raymond Handford-Boot practices in Manchester, United Kingdom. Mr. Handford-Boot is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. His top areas of expertise are Metaphyseal Chondrodysplasia Schmid Type, Spondyloepimetaphyseal Dysplasia Strudwick Type, Schwartz-Jampel Syndrome, and Chondrodystrophy.

Andrea Furga-Superti practices in Lausanne, Switzerland. Ms. Furga-Superti is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Diastrophic Dysplasia, Achondrogenesis, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Campailla Martinelli Type.

Deborah Krakow is a Medical Genetics specialist and an Obstetrics and Gynecologist in Los Angeles, California. Dr. Krakow is rated as a Distinguished provider by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Osteogenesis Imperfecta, Acromicric Dysplasia, Chondrodystrophy, and Spondyloepimetaphyseal Dysplasia Strudwick Type.

Valerie Daire-Cormier practices in Paris, France. Ms. Daire-Cormier is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Her top areas of expertise are Myhre Syndrome, Achondroplasia, Brachydactyly Mononen Type, Polydactyly, and Adenoidectomy.

Outi Makitie practices in Stockholm, Sweden. Makitie is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Their top areas of expertise are Cartilage-Hair Hypoplasia, Autoimmune Polyglandular Syndrome Type 2, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), Osteogenesis Imperfecta, and Hormone Replacement Therapy (HRT).

Nissan Baratang practices in Montreal, Canada. Baratang is rated as a Distinguished expert by MediFind in the treatment of Spondyloepimetaphyseal Dysplasia Strudwick Type. Their top areas of expertise are Glucose Phosphate Isomerase Deficiency, Spondyloepimetaphyseal Dysplasia Strudwick Type, Spondyloepiphyseal Dysplasia Congenita, and Hypotonia.